Tay-Sachs Disease

Overview

Specialists at Mayo Clinic in Minnesota have expertise and experience in diagnosing and caring for patients with Tay-Sachs disease and supporting their families. Treatment programs are tailored to each individual and take into account the needs of the patient and family, while providing state-of-the-art care and access to new developments and appropriate clinical trials.

Diagnosis

An evaluation begins with a complete physical examination, along with a detailed history of symptoms and family hereditary disorders, including Tay-Sachs disease. A physical exam of the eyes in patients with Tay-Sachs may reveal a "cherry-red" spot in the back of the eyes, a telltale symptom of the disease.

Blood test
A blood test can measure hexosaminidase A (hex A) activity. The biological parents may also have their blood tested to determine if they are genetic carriers of Tay-Sachs. The blood sample may be used for DNA testing to determine genetic mutations that could cause hex A deficiency.

Treatment Options

Medical treatments are directed at supporting and comforting patients with Tay-Sachs. Read more about Tay-Sachs treatment options.

About Tay-Sachs Disease

Tay-Sachs disease is a genetically inherited disorder, passed on from the parents to their biological child, in which the child's brain and nervous system progressively deteriorate. As the disease progresses, the body loses function, leading to blindness, deafness, paralysis and death. In the most common form, an infant will begin to show symptoms around 6 months old and die within a few years. Late-onset Tay-Sachs may develop in adolescence and adulthood.

The Tay-Sachs genetic defect prevents the body from producing enough hexosaminidase A, an enzyme needed to break down a fatty substance called GM2 gangliosides. As a result, this substance builds up in the brain to toxic levels and affects the nerve cells.

While Tay-Sachs is rare in the general population, it occurs most frequently among populations that carry the genetic defect, including people descended from eastern and central European Jewish communities (Ashkenazi Jews), people from certain French-Canadian communities of Quebec and people from the Cajun community of Louisiana. The mother and father are both carriers of the Tay-Sachs gene, meaning the genetic defect is recessive and does not cause symptoms in carriers. If a child inherits the recessive gene from both parents, which can happen about 25 percent of the time (one in four chance for each pregnancy), the child develops Tay-Sachs disease.

There is no cure for Tay-Sachs. Gene therapy research may eventually lead to a cure or treatment to slow the progression of Tay-Sachs disease. Genetic testing and genetic counseling are strongly recommended for adults from high-risk populations.